Association for Clinical Genomic Science (ACGS) has entered into
a formal affiliation with the ClinGen Inherited Cardiomyopathy Expert Panel
(CMP-EP). We will be working jointly to adapt the ACMG/AMP
variant classification guidelines for genes associated with
hypertrophic cardiomyopathy (HCM). This work is an extension of the
ClinGen CMP-EP's recommendations for MYH7 variant
classification. ClinGen and ACGS have a shared goal of
developing standardised genomic variant interpretation guidelines
for improved patient care. The contribution of genomic and
phenotypic data from both groups, as well as collaboration in the
decision-making process, represents a first step in global
development, acceptance, and use of a common set of specified
guidelines.

The National School of Healthcare Science is seeking
feedback from stakeholders on a new draft curriculum in Cancer
Genomics (previous working title of Molecular Pathology).
This new speciality adds a third strand to the Masters level
Scientist Training Programme (STP) in Genomic Sciences, which to
date has comprise two specialities of Genomics and Genomic
Counselling.

The input of stakeholders in the field is very important to this
stage of the curriculum development; the team responsible for
this project will take all comments received into account when
drafting the final version for implementation in the workplace.
Your participation in this process would be very much appreciated,
and please also feel free to forward this message to other
colleagues in your organisation who may wish to comment on the
draft curriculum.

The National School of Healthcare Science invites you to
participate in an online survey about the design and structure of
the Scientist Training Programme (STP). The STP has been running
for a number of years and they would like to capture the views and
experiences of stakeholders to understand what changes may be
required to improve the programme for trainees, training officers,
employers, and other members of the healthcare science
community.

The survey should take between 20-30 minutes to complete and
covers topics such as rotations, competencies and the Objective
Structured Final Assessment (OSFA). You may leave out any questions
you do not wish, or are unable, to answer.

You will not be asked for your name and participants will not be
identifiable in any of the survey outputs. Please note that, in
order to maintain your anonymity, the survey must be completed in
one sitting as there is no save function.

Genomics England has developed an API (application programming
interface) that facilitates the sharing of WGS results to Clinical
Interpretation Providers (CIPs) and GMCs. This CIP-API acts as a
"backend" to the GeL Interpretation Portal where GMC users can
review cases, link to CIP systems, download reports and close
cases.

As well as using the Interpretation Portal website to access
results it is also possible for GMCs, if they wish, to
programmatically access the CIP-API to obtain results in structured
(JSON) format, which provides more advanced functionality than the
website.

The ACGS and GeL are organising workshops to facilitate
adoption of this API.

Requirements

Attendees should be experienced in programmatic access to data
sources and fluent on the command line. Attendees should have
credentials for and terminal access to the GeL CIP-API.

Dates

Two workshops have already taken place in November &
December 2018 and further workshops are planned. Please ask your
local GMC leads for details.

In this section

Next Event

Latest News

Association for Clinical Genomic Science (ACGS) has entered into
a formal affiliation with the ClinGen Inherited Cardiomyopathy Expert Panel
(CMP-EP). We will be working jointly to adapt the ACMG/AMP
variant classification guidelines for genes associated with
hypertrophic cardiomyopathy (HCM). This work is an extension of the
ClinGen CMP-EP's recommendations for MYH7 variant
classification. ClinGen and ACGS have a shared goal of
developing standardised genomic variant interpretation guidelines
for improved patient care. The contribution of genomic and
phenotypic data from both groups, as well as collaboration in the
decision-making process, represents a first step in global
development, acceptance, and use of a common set of specified
guidelines.